Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.L2L

CRAT

2,591 papers

RefSeq Summary

This gene encodes carnitine O-acetyltransferase, a member of the carnitine acyltransferase family and a key metabolic pathway enzyme which plays an important role in energy homeostasis and fat metabol...

Pfam Domains

Carn_acyltransfaa 38–585UCSCCholine/Carnitine o-acyltransferase

Gene Aliases

HGNC Name

carnitine O-acetyltransferase

HGNC Alias Symbol

CAT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000755.5
p.L2L
c.4T>C
Surrounding Variants
1 paper
NM_000755.5
p.M1insFs
c.3dupG
2 papers
NM_000755.5
p.L2I
c.4T>A
1 paper
NM_000755.5
p.M1del1
c.1_2delCAT
1 paper
NM_000755.5
p.L2insFs
c.5_6insAA
2 papers
NM_000755.5
p.L2*
c.5T>G
1 paper
NM_000755.5
p.L2S
c.5T>C
1 paper
NM_000755.5
p.L2*
c.5T>A
3 papers
NM_000755.5
p.M1I
c.3G>T
1 paper
NM_000755.5
p.M1insFs
c.2dupT
1 paper
NM_000755.5
p.M1_L2insFs
c.3_4insA
2 papers
NM_000755.5
p.M1delFs
c.2delA
1 paper
NM_000755.5
p.M1delFs
c.1_2delAT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."